ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752660
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000291639
RCV000346595
RCV000419423
RCV001080538
RCV001272842
RCV001753802
ClinVar Variation:
336969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Ile1325Val
CA1706842
NM_001130978.2:c.3973A>G